Examination by microArray technique (SNP Array)

Test covered by the reimbursement:

YES

Gender:

Woman

Material:

Chorionic villi, Amniotic fluid …

Turnover time:

4 weeks

STATIM:

2 weeks

Material:

Chorionic villi | Chorionic villi, min. 30 mg tissue in a microtube (Eppendorf type)

Storage before examination: 1 day 15–25°C, 2–8°C for >8 hrs after collection

Amniotic fluid | 3x 10 ml of amniotic fluid in a tube

Storage before examination: 1 day 15–25°C, 2–8°C for >8 hrs after collection

Cord blood | 2–3 ml of cord blood in EDTA

Storage before examination: 1 days 15–25°C, 2–8°C for >8 hrs after collection

Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)

Storage before examination: 5 days 15 – 25°C

Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)

Storage before examination: 5 days 15 – 25°C

Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)

Storage before examination: 5 days 15 – 25°C

DNA isolated from cultured cells | 30–100 ng/μL of isolated DNA from cultured cells in a microtube (Eppendorf type)

Storage before examination: 3 days 15 – 25°C

Quick test description:

Examination by SNP array method for genome-wide detection of submicroscopic chromosomal aberrations (deletions and/or duplications) in samples of postnatal origin.

Test details:

The principle of the SNP array is the hybridization of engineered tested DNA (amplification, fragmentation, precipitation and resuspension) to immobilised probes on the chip, specific labelling with a fluorescent dye and subsequent scanning of the fluorescent signal on the chip with a scanner (iScan). The scanner reads information for each SNP examined – genotype and signal strength. Using special evaluation software, changes in CNV (Copy Number Variation) and neutral changes in AOH (Absence of Heterozygozity) are detected. The software virtually compares the patient’s data with the control group; control samples are not used for SNP array. Illumina chips with >700,000 markers are used for CNV and AOH analysis. The result is a report with cytogenetic notation of findings according to the current ISCN nomenclature.

The report includes a comment on the result, a statement on the degree of pathogenicity of the findings (also taking into account clinical data on the family, patient/foetus) and recommendations for possible follow-up examinations. The report also includes the distinction of the method and its limitations.

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